Canonical Allele Identifier: CA10610264
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 297371
ClinVar RCV Id: RCV000322089 RCV000360508
dbSNP Id: rs6413524
gnomAD v2: 1-43392141-G-A
gnomAD v3: 1-42926470-G-A
gnomAD v4: 1-42926470-G-A
MyVariant Identifiers: chr1:g.43392141G>A (hg19) chr1:g.42926470G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42926470G>A , CM000663.2:g.42926470G>A GRCh38
NC_000001.10:g.43392141G>A , CM000663.1:g.43392141G>A GRCh37
NC_000001.9:g.43164728G>A NCBI36
NG_008232.1:g.37707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.*571C>T MANE Select ENSP00000416293.2:n.*571C>T
ENST00000674545.1:n.2667C>T
ENST00000674765.1:c.*337C>T ENSP00000501811.1:n.*337C>T
ENST00000675112.1:n.2351C>T
ENST00000676254.1:n.2499C>T
ENST00000426263.7:c.*571C>T ENSP00000416293.2:n.*571C>T
ENST00000630287.2:c.*1365C>T ENSP00000486694.1:n.*1365C>T
NM_006516.2:c.*571C>T NP_006507.2:n.*571C>T
NM_006516.3:c.*571C>T NP_006507.2:n.*571C>T
NM_006516.4:c.*571C>T MANE Select NP_006507.2:n.*571C>T
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Search 100 bp 3'